一名患有先天性溶血性贫血和严重肌张力减退儿童的磷酸丙糖异构酶缺乏症
Triosephosphate isomerase deficiency in a child with congenital hemolytic anemia and severe hypotonia.
作者信息
Linarello R E, Shetty A K, Thomas T, Warrier R P
机构信息
Department of Pediatrics, LSU School of Medicine, New Oreleans 70112, USA.
出版信息
Pediatr Hematol Oncol. 1998 Nov-Dec;15(6):553-6. doi: 10.3109/08880019809018318.
PMID:9842650
Abstract
A discussion of a 5-year-old child with congenital hemolytic anemia and severe hypotonia caused by triosephosphate (TPI) deficiency is presented. The complexities in the diagnosis and management of this condition is discussed and the relevant literature is reviewed.
摘要
本文介绍了一名5岁儿童因磷酸丙糖异构酶（TPI）缺乏导致先天性溶血性贫血和严重肌张力减退的病例。文中讨论了该病症诊断和治疗的复杂性，并对相关文献进行了综述。
Zotero 插件